XYLT1, xylosyltransferase 1, 64131

N. diseases: 141; N. variants: 19
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777366
rs587777366 		1.000 16 17141299 missense variant G/A snv
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.800 1.000 3 2014 2017
dbSNP: rs587777367
rs587777367 		1.000 16 17134708 missense variant G/A snv 7.0E-06
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.800 1.000 3 2014 2017
dbSNP: rs769391314
rs769391314 		1.000 16 17109015 stop gained C/A;T snv 5.5E-06; 1.1E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2014 2017
dbSNP: rs4453460
rs4453460 		1.000 0.040 16 17112088 intron variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4583225
rs4583225 		1.000 0.040 16 17111687 intron variant C/G snv 0.33
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs551640889
rs551640889 		1.000 0.080 16 17166334 intron variant C/G snv 1.5E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs7203032
rs7203032 		16 17423006 intron variant G/A snv 0.11
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs74643788
rs74643788 		1.000 0.120 16 17268972 intron variant C/G;T snv
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs77981494
rs77981494 		16 17451009 intron variant T/C snv 3.8E-02
CUI: C2697787
Disease: Interleukin 7 Measurement
Interleukin 7 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1085307563
rs1085307563 		1.000 16 17138385 stop gained -/CATT delins
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.700 0
dbSNP: rs1567215600
rs1567215600 		1.000 16 17470478 stop gained C/A snv
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.700 0
dbSNP: rs1567215615
rs1567215615 		1.000 16 17470491 frameshift variant GCCTCCCCGCGCCCGCGCCTGGGGCC/- delins
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.700 0
dbSNP: rs1567300982
rs1567300982 		1.000 16 17158910 splice acceptor variant C/T snv
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.700 0
dbSNP: rs587777368
rs587777368 		1.000 16 17259462 stop gained G/A;T snv 4.0E-06
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.700 0
dbSNP: rs587777369
rs587777369 		1.000 16 17470521 frameshift variant C/-;CC delins
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.700 0
dbSNP: rs587777370
rs587777370 		1.000 16 17158911 splice acceptor variant T/G snv
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		0.700 0
dbSNP: rs61758388
rs61758388 		0.851 0.360 16 17470454 missense variant C/A;G snv 2.7E-02
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs12708815
rs12708815 		1.000 0.120 16 17134511 synonymous variant G/A;C snv 0.56
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs61758388
rs61758388 		0.851 0.360 16 17470454 missense variant C/A;G snv 2.7E-02
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs61758388
rs61758388 		0.851 0.360 16 17470454 missense variant C/A;G snv 2.7E-02
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs61758388
rs61758388 		0.851 0.360 16 17470454 missense variant C/A;G snv 2.7E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs777761378
rs777761378 		1.000 0.040 16 17141171 synonymous variant G/A snv 1.6E-05 1.4E-05
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2006 2006